Incidental Mutation 'R8294:Prkch'
| ID |
638861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkch
|
| Ensembl Gene |
ENSMUSG00000021108 |
| Gene Name |
protein kinase C, eta |
| Synonyms |
Pkch |
| MMRRC Submission |
067784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
73631570-73824959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73806484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 577
(L577H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021527]
|
| AlphaFold |
P23298 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021527
AA Change: L577H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: L577H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
117 |
1.28e-13 |
SMART |
|
C1
|
172 |
222 |
7.92e-14 |
SMART |
|
C1
|
246 |
295 |
2.48e-15 |
SMART |
|
S_TKc
|
355 |
614 |
5.62e-100 |
SMART |
|
S_TK_X
|
615 |
678 |
8.32e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119092
AA Change: L577H
|
| SMART Domains |
Protein: ENSMUSP00000112499
Gene: ENSMUSG00000021108
AA Change: L577H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
117 |
1.28e-13 |
SMART |
|
C1
|
172 |
222 |
7.92e-14 |
SMART |
|
C1
|
246 |
295 |
2.48e-15 |
SMART |
|
S_TKc
|
355 |
597 |
6.67e-84 |
SMART |
|
| Meta Mutation Damage Score |
0.9208 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thymus hypoplasia, enlarged lymph nodes and alterations in T cell homeostasis and activation. Mice homozygous for a different knock-out allele show impaired wound healing and increased incidence of tumors by chemical induction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,897,217 (GRCm39) |
V632A |
possibly damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,175,243 (GRCm39) |
I79V |
probably benign |
Het |
| Arid3a |
A |
T |
10: 79,786,535 (GRCm39) |
|
silent |
Het |
| Cecr2 |
C |
T |
6: 120,710,747 (GRCm39) |
A154V |
probably damaging |
Het |
| Cog3 |
A |
C |
14: 75,954,619 (GRCm39) |
L650R |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,594 (GRCm39) |
F610I |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,186,844 (GRCm39) |
D1215G |
probably null |
Het |
| Ctsh |
C |
G |
9: 89,950,489 (GRCm39) |
A219G |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,859,410 (GRCm39) |
L2126F |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,488,079 (GRCm39) |
V2028A |
possibly damaging |
Het |
| Ece1 |
T |
C |
4: 137,675,931 (GRCm39) |
V435A |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| H4c1 |
A |
G |
13: 23,944,957 (GRCm39) |
F62L |
probably damaging |
Het |
| Hk1 |
T |
G |
10: 62,131,624 (GRCm39) |
I245L |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,378 (GRCm39) |
K104Q |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,853,954 (GRCm39) |
I2017V |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,603,915 (GRCm39) |
A244V |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,694,472 (GRCm39) |
L141Q |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,537,500 (GRCm39) |
A6S |
unknown |
Het |
| Muc6 |
T |
C |
7: 141,217,263 (GRCm39) |
Y2470C |
possibly damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,418 (GRCm39) |
V713A |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,010 (GRCm39) |
D273G |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,753,083 (GRCm39) |
T141A |
possibly damaging |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,044,487 (GRCm39) |
Y73C |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,300 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,674,694 (GRCm39) |
L74P |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,416,220 (GRCm39) |
S1631P |
probably benign |
Het |
| Rph3a |
A |
G |
5: 121,099,429 (GRCm39) |
F154S |
probably damaging |
Het |
| S1pr5 |
A |
G |
9: 21,156,300 (GRCm39) |
V42A |
possibly damaging |
Het |
| Scaper |
G |
A |
9: 55,517,280 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Slc44a2 |
G |
T |
9: 21,259,643 (GRCm39) |
V597F |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,467 (GRCm39) |
S116T |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,345,027 (GRCm39) |
D1004G |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,074,816 (GRCm39) |
D25E |
|
Het |
| Syt17 |
A |
T |
7: 118,009,228 (GRCm39) |
Y327N |
probably damaging |
Het |
| T |
T |
A |
17: 8,653,364 (GRCm39) |
M1K |
probably null |
Het |
| Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,868,176 (GRCm39) |
C211S |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,331,588 (GRCm39) |
D7G |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,811,160 (GRCm39) |
K1863N |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,978 (GRCm39) |
S104T |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,229,689 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Prkch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Prkch
|
APN |
12 |
73,749,363 (GRCm39) |
splice site |
probably benign |
|
|
IGL00548:Prkch
|
APN |
12 |
73,749,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Prkch
|
APN |
12 |
73,805,787 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01782:Prkch
|
APN |
12 |
73,806,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Prkch
|
APN |
12 |
73,749,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
Nighthawk
|
UTSW |
12 |
73,768,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Topsoil
|
UTSW |
12 |
73,632,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
wolfcreek
|
UTSW |
12 |
73,806,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Prkch
|
UTSW |
12 |
73,749,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0084:Prkch
|
UTSW |
12 |
73,744,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0127:Prkch
|
UTSW |
12 |
73,768,561 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0471:Prkch
|
UTSW |
12 |
73,738,426 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0490:Prkch
|
UTSW |
12 |
73,806,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Prkch
|
UTSW |
12 |
73,632,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Prkch
|
UTSW |
12 |
73,632,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Prkch
|
UTSW |
12 |
73,749,320 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1572:Prkch
|
UTSW |
12 |
73,696,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1651:Prkch
|
UTSW |
12 |
73,805,775 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2114:Prkch
|
UTSW |
12 |
73,749,290 (GRCm39) |
missense |
probably benign |
|
|
R3714:Prkch
|
UTSW |
12 |
73,822,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Prkch
|
UTSW |
12 |
73,749,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4749:Prkch
|
UTSW |
12 |
73,739,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Prkch
|
UTSW |
12 |
73,749,667 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5381:Prkch
|
UTSW |
12 |
73,738,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Prkch
|
UTSW |
12 |
73,744,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Prkch
|
UTSW |
12 |
73,749,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Prkch
|
UTSW |
12 |
73,806,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Prkch
|
UTSW |
12 |
73,632,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8074:Prkch
|
UTSW |
12 |
73,747,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8301:Prkch
|
UTSW |
12 |
73,749,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8312:Prkch
|
UTSW |
12 |
73,807,358 (GRCm39) |
missense |
noncoding transcript |
|
|
R8734:Prkch
|
UTSW |
12 |
73,632,018 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8766:Prkch
|
UTSW |
12 |
73,749,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8998:Prkch
|
UTSW |
12 |
73,742,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Prkch
|
UTSW |
12 |
73,742,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Prkch
|
UTSW |
12 |
73,822,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9152:Prkch
|
UTSW |
12 |
73,738,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9176:Prkch
|
UTSW |
12 |
73,746,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Prkch
|
UTSW |
12 |
73,768,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Prkch
|
UTSW |
12 |
73,805,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Prkch
|
UTSW |
12 |
73,747,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Prkch
|
UTSW |
12 |
73,744,744 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACACGCATGTCAGCAAG -3'
(R):5'- TGATGCTGCAGACATTCCCAG -3'
Sequencing Primer
(F):5'- CATGTCAGCAAGCGGGAC -3'
(R):5'- CAGCCTAGGAGAAATTCTTGATTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation